ITM2B( Human )

Entrez Gene 9445 Entrez Gene 9445
integral membrane protein 2B

Alias

ABRI|BRI|BRI2|BRICD2B|E25B|E3-16|FBD|RDGCA|imBRI2

Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009].

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